Varaico: Literature-Extracted Genetic Variants

HADH

252 papers

RefSeq Summary

This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as pa...

Pfam Domains

3HCDH_Naa 29–214UCSC3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

3HCDHaa 216–313UCSC3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

hydroxyacyl-CoA dehydrogenase

HGNC Previous Symbol

HADHSC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005327.7

p.S210A

c.628T>G

Surrounding Variants

1 paper

NM_005327.7

p.S210Y

c.629C>A

7 papers

NM_005327.7

p.V209I

c.625G>A

1 paper

NM_005327.7

p.C211Y

c.632G>A

1 paper

NM_005327.7

p.C211W

c.633C>G

1 paper

NM_005327.7

p.H207P

c.620A>C

1 paper

NM_005327.7

p.K212_D213Splc

c.636+1G>A

1 paper

NM_005327.7

p.K206fs

c.616_617fs

3 papers

NM_005327.7

p.K206delFs

c.617delA

1 paper

NM_005327.7

p.V198_D199delFs

c.592_595del4

1 paper

NM_005327.7

p.K212_D213Splc

c.636+32G>C

2 papers

NM_005327.7

p.S196delFs

c.587delC

1 paper

NM_005327.7

p.T193ins1

c.578_579insTCA